The clinical characteristics, EEG abnormalities, response to therapy, and outcome of 14 patients with infantile spasms and Down syndrome were studied at the Hopital Saint Vincent de Paul, Paris (9 cases); Universita Degli Studi de Pisa, Italy (2 cases); and Hopital de La Timone, Marseille, France (3 cases). None had antecedent cardiopathy or perinatal hypoxia. Spasms began between 4 and 18 months (mean 8 months), development was delayed before seizure onset, and visual contact deteriorated after seizure onset. Interictal EEGs showed typical hypsarrhythmia with no focal abnormality. Hydrocortisone (15 mg/kg/day for 2 weeks, and discontinuation over 2 weeks) in 10, and vigabatrin, valproate, or pyridoxine in 4 patients, controlled spasms and hypsarrhythmia within 6 months. Five with relapses within 2 months responded to further treatments. Seven remained seizure-free, and 7 developed other types of seizures resembling idiopathic generalized epilepsies, including myoclonic jerks, absences, or generalized atonic or tonic-clonic seizures, most responding readily to a combination of valproate, ethosuximide, and diazepam. None developed Lennox-Gastaut syndrome or other chronic refractory seizure disorder. Autistic features persisted in 2. [1]

COMMENT. Infantile spasms in Down syndrome have the ictal and interictal EEG characteristics of idiopathic West syndrome, they respond relatively well to therapy, and do not generally evolve into Lennox-Gastaut or other chronic epilepsy syndrome. A delay in diagnosis may contribute to a worsening of cognitive dysfunction, and parents of Down syndrome children should be alerted to the possible development of spasms in the first year.

A case of West syndrome as the initial manifestation of congenital unilateral perisylvian cortical dysplasia is reported from University Children’s Hospital, Badajoz; and Galicia General University Hospital, Santiago de Compostela, Spain [2]. The child had left hemiatrophy and paresis and was developmentally delayed. Later, he had refractory epilepsy, with complex partial, atypical absence, and atonic seizures. The interictal EEG during sleep showed right sided epileptogenic activity with contralateral spread.